UK national platform for Spinal Muscular Atrophy (SMA)
Research type
Research Study
Full title
Improving standards of care and Translational Research in Spinal Muscular Atrophy (SMA)
IRAS ID
122521
Contact name
Francesco Muntoni
Contact email
Sponsor organisation
Great Ormond Street Hospital for Children NHS Foundation Trust
Research summary
Our aim is to establish a Spinal Muscular Atrophy (SMA) National Platform to improve UK standards of care, manage National and International clinical trials and facilitate translational research for this common neuromuscular disease. To achieve this purpose we will start to systematically collect longitudinal validated outcome measures for SMA children followed at GOSH, the largest cohort followed in UK, and pilot and update novel outcome measures. This will be done ensuring that data collected are not only clinically meaningful but also robust for subsequent use in clinical trials. In collaboration with the MRC Neuromuscular Centre in London and Newcastle, we will link the existing registries and the longitudinal data collection of outcome measures and develop a hub and bespoke platform model linking the other paediatric UK centres involved in the clinical management of SMA patients. This UK SMA Platform (SMA REACH UK) will be a unique infrastructure containing the largest comprehensive longitudinal series of SMA patient data in the UK; the data collected will be agreed between the relevant other UK centres stakeholders and will take into consideration other international initiatives with historical success in SMA treatment and research. On-going analysis including modern psychometric techniques will ensure that the functional data collected in the UK SMA population meets the high statistical standards required for the data to inform natural history studies and be usable as an outcome measure for clinical trials.
An innovative genetic therapy preclinical project taking advantage of our expertise in antisense oligonucleotide compounds will also be pursued on a parallel research project.
REC name
London - Bromley Research Ethics Committee
REC reference
13/LO/1748
Date of REC Opinion
17 Dec 2013
REC opinion
Further Information Favourable Opinion